Article
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.
JAMA neurology - 1 Aug 2015
Korvatska Olena, Leverenz James B, Jayadev Suman, McMillan Pamela, Kurtz Irina, Guo Xindi, Rumbaugh Malia, Matsushita Mark, Girirajan Santhosh, Dorschner Michael O, Kiianitsa Kostantin, Yu Chang-En, Brkanac Zoran, Garden Gwenn A, Raskind Wendy H, Bird Thomas D
Abstract excerpt
IMPORTANCE: The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. OBJECTIVE: To investigate a large family with late-onset AD (LOAD), in which R47H cosegregated with 75% of cases. DESIGN, SETTING, AND PARTICIPANTS: This study...
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